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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs721

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr2:203822989 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.32749 (41122/125568, TOPMED)
A=0.3075 (9636/31340, GnomAD)
A=0.333 (1668/5008, 1000G) (+ 5 more)
A=0.240 (1077/4480, Estonian)
A=0.230 (888/3854, ALSPAC)
A=0.233 (864/3708, TWINSUK)
A=0.20 (117/600, NorthernSweden)
A=0.41 (85/208, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 2 NC_000002.12:g.203822989A>G
GRCh37.p13 chr 2 NC_000002.11:g.204687712A>G
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.32749 G=0.67251
gnomAD - Genomes Global Study-wide 31340 A=0.3075 G=0.6925
gnomAD - Genomes European Sub 18876 A=0.2320 G=0.7680
gnomAD - Genomes African Sub 8688 A=0.446 G=0.554
gnomAD - Genomes East Asian Sub 1554 A=0.542 G=0.458
gnomAD - Genomes Other Sub 1084 A=0.240 G=0.760
gnomAD - Genomes American Sub 848 A=0.24 G=0.76
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.26 G=0.74
1000Genomes Global Study-wide 5008 A=0.333 G=0.667
1000Genomes African Sub 1322 A=0.470 G=0.530
1000Genomes East Asian Sub 1008 A=0.508 G=0.492
1000Genomes Europe Sub 1006 A=0.228 G=0.772
1000Genomes South Asian Sub 978 A=0.15 G=0.85
1000Genomes American Sub 694 A=0.23 G=0.77
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.240 G=0.760
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.230 G=0.770
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.233 G=0.767
Northern Sweden ACPOP Study-wide 600 A=0.20 G=0.81
A Vietnamese Genetic Variation Database Global Study-wide 208 A=0.41 G=0.59
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G Note
GRCh38.p12 chr 2 NC_000002.12:g.203822989= NC_000002.12:g.20382298...

NC_000002.12:g.203822989A>G

GRCh37.p13 chr 2 NC_000002.11:g.204687712= NC_000002.11:g.20468771...

NC_000002.11:g.204687712A>G

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

65 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss726 Sep 19, 2000 (36)
2 WIAF ss19388 Sep 19, 2000 (98)
3 KWOK ss299602 Jul 12, 2000 (85)
4 SC_JCM ss554175 Jul 16, 2000 (85)
5 KWOK ss1261625 Oct 05, 2000 (87)
6 KWOK ss1644702 Oct 18, 2000 (87)
7 CSHL-HAPMAP ss19422686 Feb 27, 2004 (120)
8 SSAHASNP ss21645884 Apr 05, 2004 (123)
9 HGSV ss85122173 Dec 14, 2007 (130)
10 HGSV ss85302814 Dec 14, 2007 (130)
11 HUMANGENOME_JCVI ss96465533 Feb 04, 2009 (130)
12 BGI ss103661113 Dec 01, 2009 (131)
13 1000GENOMES ss110605584 Jan 25, 2009 (130)
14 1000GENOMES ss111531817 Jan 25, 2009 (130)
15 ILLUMINA-UK ss118045347 Feb 14, 2009 (130)
16 WTCCC ss120251651 Dec 01, 2009 (131)
17 ENSEMBL ss135997973 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss165297720 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss165840065 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss167538677 Jul 04, 2010 (132)
21 BUSHMAN ss201621332 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss205680783 Jul 04, 2010 (132)
23 1000GENOMES ss219761827 Jul 14, 2010 (132)
24 1000GENOMES ss231550239 Jul 14, 2010 (132)
25 1000GENOMES ss239019830 Jul 15, 2010 (132)
26 BL ss253823903 May 09, 2011 (134)
27 GMI ss276865900 May 04, 2012 (137)
28 GMI ss284524125 Apr 25, 2013 (138)
29 PJP ss292470150 May 09, 2011 (134)
30 TISHKOFF ss556162357 Apr 25, 2013 (138)
31 SSMP ss649829080 Apr 25, 2013 (138)
32 EVA-GONL ss977864813 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1069868334 Aug 21, 2014 (142)
34 1000GENOMES ss1301285055 Aug 21, 2014 (142)
35 DDI ss1428882586 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1579284507 Apr 01, 2015 (144)
37 EVA_DECODE ss1587316960 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1605599707 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1648593740 Apr 01, 2015 (144)
40 HAMMER_LAB ss1798215981 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1921111412 Feb 12, 2016 (147)
42 GENOMED ss1969002495 Jul 19, 2016 (147)
43 JJLAB ss2021098097 Sep 14, 2016 (149)
44 ILLUMINA ss2094914760 Dec 20, 2016 (150)
45 ILLUMINA ss2095108035 Dec 20, 2016 (150)
46 USC_VALOUEV ss2149163579 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2238398136 Dec 20, 2016 (150)
48 TOPMED ss2404844318 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2625051759 Nov 08, 2017 (151)
50 GRF ss2703811094 Nov 08, 2017 (151)
51 GNOMAD ss2785308938 Nov 08, 2017 (151)
52 SWEGEN ss2991211926 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3024307933 Nov 08, 2017 (151)
54 TOPMED ss3336040367 Nov 08, 2017 (151)
55 CSHL ss3344699546 Nov 08, 2017 (151)
56 URBANLAB ss3647253197 Oct 11, 2018 (152)
57 ILLUMINA ss3652509441 Oct 11, 2018 (152)
58 EGCUT_WGS ss3659100876 Jul 13, 2019 (153)
59 EVA_DECODE ss3705845703 Jul 13, 2019 (153)
60 ACPOP ss3729292536 Jul 13, 2019 (153)
61 EVA ss3757976163 Jul 13, 2019 (153)
62 PACBIO ss3784128000 Jul 13, 2019 (153)
63 PACBIO ss3789669827 Jul 13, 2019 (153)
64 PACBIO ss3794542992 Jul 13, 2019 (153)
65 KHV_HUMAN_GENOMES ss3802335165 Jul 13, 2019 (153)
66 1000Genomes NC_000002.11 - 204687712 Oct 11, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 204687712 Oct 11, 2018 (152)
68 Genetic variation in the Estonian population NC_000002.11 - 204687712 Oct 11, 2018 (152)
69 gnomAD - Genomes NC_000002.11 - 204687712 Jul 13, 2019 (153)
70 Northern Sweden NC_000002.11 - 204687712 Jul 13, 2019 (153)
71 TopMed NC_000002.12 - 203822989 Oct 11, 2018 (152)
72 UK 10K study - Twins NC_000002.11 - 204687712 Oct 11, 2018 (152)
73 A Vietnamese Genetic Variation Database NC_000002.11 - 204687712 Jul 13, 2019 (153)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs16981 Aug 15, 2001 (98)
rs231748 Sep 19, 2000 (85)
rs859845 Oct 23, 2000 (87)
rs13008629 Oct 07, 2004 (123)
rs57947618 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85122173, ss85302814 NC_000002.9:204513217:A:G NC_000002.12:203822988:A:G (self)
ss110605584, ss111531817, ss118045347, ss165297720, ss165840065, ss167538677, ss201621332, ss205680783, ss253823903, ss276865900, ss284524125, ss292470150, ss1587316960, ss2094914760 NC_000002.10:204395956:A:G NC_000002.12:203822988:A:G (self)
12376715, 6838174, 4839124, 33870778, 2577401, 6838174, 1489022, ss219761827, ss231550239, ss239019830, ss556162357, ss649829080, ss977864813, ss1069868334, ss1301285055, ss1428882586, ss1579284507, ss1605599707, ss1648593740, ss1798215981, ss1921111412, ss1969002495, ss2021098097, ss2095108035, ss2149163579, ss2404844318, ss2625051759, ss2703811094, ss2785308938, ss2991211926, ss3344699546, ss3652509441, ss3659100876, ss3729292536, ss3757976163, ss3784128000, ss3789669827, ss3794542992 NC_000002.11:204687711:A:G NC_000002.12:203822988:A:G (self)
215530340, ss2238398136, ss3024307933, ss3336040367, ss3647253197, ss3705845703, ss3802335165 NC_000002.12:203822988:A:G NC_000002.12:203822988:A:G (self)
ss19422686, ss21645884 NT_005403.14:54897127:A:G NC_000002.12:203822988:A:G (self)
ss726, ss19388, ss299602, ss554175, ss1261625, ss1644702, ss96465533, ss103661113, ss120251651, ss135997973 NT_005403.17:54897129:A:G NC_000002.12:203822988:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs721

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post246+3cda961